Objective: This study examined the mutation spectrum and frequency of three prevalent pathogenic genes in patients with non-syndromic hearing loss (NSHL) from Gansu Province, China.
Methods: We analyzed 452 NSHL patients from five special education schools across several cities in Gansu Province using SNPscan technology to determine the mutation spectrum of mtDNA 12S rRNA, GJB2, and SLC26A4 genes.
Results: Among the 452 patients evaluated, mutations in the GJB2 gene were observed in 91 cases (20.13 %), mutations in the SLC26A4 gene in 81 cases (17.92 %), and homoplasmic mutations in mtDNA 12S rRNA in 26 cases (5.75 %). Significant differences in GJB2 mutations were observed between Han patients and those of Hui, Tibetan and Mongolian ethnicity (χ = 4.554, p = 0.033; χ = 3.987, p = 0.046; χ = 4.041, p = 0.044), as well as in SLC26A4 gene mutations between Han patients and both Hui and Tu patients (χ = 4.247, p = 0.039; p = 0.035, two-sided). MT-RNR1 mutations were exclusively identified in Tibetans, Han, and Hui patients.
Conclusion: Our findings demonstrate variations in the mutation spectra of the GJB2, SLC26A4, and mtDNA 12S rRNA genes across different ethnic groups, highlighting ethnic variations in mutation prevalence. This study expands the understanding of the genetic mutation spectrum associated with deafness in Gansu and supports the enhancement of molecular diagnostic accuracy for diverse ethnic populations in the region.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.ijporl.2025.112298 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Implications of draxin in neurological disorders.
Front Cell Dev Biol
February 2025
Department of Neurophysiology, Hamamatsu University School of Medicine, Shizuoka, Japan.
Axon guidance proteins not only play a role in the formation of proper neural circuits but also have other important functions, such as cell survival, migration, and proliferation in the brain. Therefore, mutations in the genes encoding these proteins frequently cause various types of neurological disorders, including psychiatric disorders and neurodegenerative diseases. We previously identified an axon guidance protein, draxin, that is essential for the development of several neural circuits and cell survival in the brain.
View Article and Find Full Text PDFSomatic mutations in Brazilian patients with paroxysmal nocturnal hemoglobinuria: a comprehensive analysis.
Front Med (Lausanne)
February 2025
Department of Hematology, Universidade Federal de São Paulo/Escola Paulista de Medicina, São Paulo, Brazil.
Background: Paroxysmal nocturnal hemoglobinuria (PNH) is a rare clonal hematopoietic stem cell disease characterized by acquired abnormalities in the phosphatidylinositol glycan class A () gene.
Methods: This study analyzed gene using polymerase chain reaction (PCR) followed by Sanger sequencing of 31 Brazilian patients with PNH, including 23 with classical PNH and 8 with subclinical PNH (aplastic anemia and a PNH clone).
Results: A diverse spectrum of acquired variants was identified, encompassing insertions, deletions, and single-base substitutions.
T and NK cell functionality in a patient harboring heterozygous novel BCL11B p.Asp632fsAla∗91 and STX11 p.R129P mutations.
Heliyon
February 2025
IQUIBICEN - Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Argentina.
BCL11B is a transcription factor essential for central nervous system development and T-cell differentiation that regulates numerous genes across various pathways. Heterozygous BCL11B defects can lead to a broad spectrum of phenotypes, including neurological disorders with or without immunological features. STX11 encodes a t-SNARE protein crucial for the final fusion of lytic granules with the plasma membrane of NK-cells and CD8 T-cells.
View Article and Find Full Text PDFAutism spectrum disorder and 3p24.3p23 triplication: a case report.
J Med Case Rep
March 2025
Child Neurology and Psychiatry Unit, Department of Wellbeing of Mental and Neurological, Dental and Sensory Organ Health, Policlinico Tor Vergata Hospital, Rome, Italy.
Background: The role of copy number variants as genomic mutations causative of neurodevelopmental disorders has been recently established. They can act as risk factors of conditions with multifactorial etiopathogenesis and incomplete penetrance, such as nonsyndromic autism, and, in this case, are often inherited from an unaffected parent. Conversely, dominant syndromes, with high penetrance, can be caused by de novo occurring variants.
View Article and Find Full Text PDFA novel homozygous frameshift mutation in MCM8 causes primary gonadal dysgenesis in both genders.
J Assist Reprod Genet
March 2025
Department of Reproductive Medicine, Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, 210002, Jiangsu, China.
Purpose: We aimed to demonstrate the genetic factors of primary gonadal dysgenesis in a consanguineous family characterized by underdeveloped testes and non-obstructive azoospermia (NOA) in a male and primary amenorrhoea and primary ovarian insufficiency (POI) in a female.
Methods: DNA was extracted from the male proband with infertility from the consanguineous family for whole-exome sequencing and bioinformatics analysis to screen for potential pathogenic genes and mutations. Sanger sequencing was used for further validation of his family pedigree.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!